The epidemiology of fetal alcohol syndrome and partial FAS in a South African community
Introduction
Alcohol is a teratogen that has raised concerns about birth outcomes for years (Sullivan, 1899, Lemoine et al., 1968, Abel, 1998, Armstrong, 2003), but the diagnosis of fetal alcohol syndrome (FAS) was not formalized and published until 1973 (Jones and Smith, 1973). Further delineation of the diagnosis has occurred since then, and work on its nature and applications continues (Sokol and Clarren, 1989, Aase, 1994, Aase et al., 1995, Stratton et al., 1996, Astley and Clarren, 2000, Hoyme et al., 2005).
FAS is a pattern of anomalies and developmental deficits found in children exposed to large amounts of alcohol in the prenatal period. Children with FAS have a characteristic pattern of facial and body dysmorphology, delayed physical growth and development, and specific mental and behavioral deficits (Stratton et al., 1996). For a diagnosis of FAS, all three categories of problems must be present (Stratton et al., 1996), and the diagnosis should be made only after excluding other genetic and teratogenic anomalies (Hoyme et al., 2005). Even though a FAS diagnosis can be made without confirmation of maternal drinking (Stratton et al., 1996), a detailed maternal history is best to confirm the quantity, frequency, and timing of gestational drinking (May, 1995). In this study we provided diagnoses of two Institute of Medicine (IOM) prescribed fetal alcohol outcomes, FAS and partial fetal alcohol syndrome (PFAS) (Stratton et al., 1996). In addition to these two levels of fetal alcohol outcomes, the IOM report defined alcohol-related neurodevelopmental deficits (ARND) where the child has neurodevelopmental delays and/or behavioral problems with minimal dysmorphology characteristic of FAS or alcohol-related birth defects (ARBD) with some dysmorphology but minimal behavioral or neurodevelopmental problems consistent with FAS (Stratton et al., 1996). The entire continuum of effects, from mild to severe, is called fetal alcohol spectrum disorder (FASD).
In a first active case ascertainment study in this South African community, the rate of FAS among first grade children was 40.5–46.4 per 1000 (May et al., 2000). In a second, similar study it was even higher 2 years later at 65.2–74.2 per 1000 (Viljoen et al., 2005). Both of these rates of prevalence are the highest ever reported in the world.
FAS prevalence from clinic-based studies is estimated for the United States (US) as 0.33–2.2 (Abel and Sokol, 1991, Stratton et al., 1996, May and Gossage, 2001), and an average estimate for the developed world is 0.97 per 1000 (Abel and Sokol, 1987, Abel, 1998). A clinic-based rate of FAS for African Americans of low socioeconomic status (SES) has been reported as 2.3 per 1000 (Abel, 1998, Abel, 1995). In a few high risk American Indian reservation communities in the US, the prevalence of FAS has been researched via studies utilizing active case ascertainment methods, and averages of 8 per 1000 have been found. The short-term prevalence in these populations sometimes exceeds 20 per 1000 (Abel, 1995, May, 1991, May et al., 1983, May et al., 2002).
Active case ascertainment for FAS epidemiological research, where outreach and aggressive case finding are practiced, was endorsed by a study committee of the US Institute of Medicine as the most accurate approach to ascertaining prevalence; but such studies are logistically challenging, expensive, and time consuming (Stratton et al., 1996). Nevertheless, estimations of FAS prevalence and most of the delineation of the characteristics of all levels of FASD in the US come from various other sources: birth records, disability registries, clinic-based studies, and a very few population-based initiatives (Chavez et al., 1988, Stratton et al., 1996, May, 1996, Burd et al., 1996, Egeland et al., 1995, Egeland et al., 1998, Kvigne et al., 2004). All but one of the four active case ascertainment studies of FASD in the US, where outreach in major geographical areas focuses on aggressive case finding, were carried out among American Indians (Quaid et al., 1993, Duimstra et al., 1993, May et al., 1983, Clarren et al., 2001). Passive, record-based systems and clinic-based methods, which investigate FAS among clients presenting for medical services (e.g., prenatal clinics) are most commonly used in studies of other US and European populations (Abel and Sokol, 1991, Abel and Sokol, 1987, Abel, 1995, May, 1996, Chavez et al., 1988, Egeland et al., 1995, Egeland et al., 1998). Therefore, because of wide variation in methodologies, comparison of FAS prevalence and the characteristics of children with FASD is difficult to impossible.
Fruit orchards, grape-growing, wine production, and agriculture dominate large areas of Western Cape Province (WCP) of South Africa (SA). Wine production and unique social, and economic conditions over the past 300 years have influenced the modal drinking patterns. Wine was historically distributed daily by farmers to workers as partial payment for labor among an impoverished labor force. This practice was called the “Dop” system. Dop was outlawed over the past 40 years by multiple statutes, and there is widespread public sentiment against it. In our last study of this area, less than 2% of mothers of FAS children reported receiving Dop. But residual patterns of frequent, heavy, episodic alcohol consumption (now commercially purchased) by some individuals and groups remain a legacy of the Dop system. In recent years there have been changes in the nature of the drinking behavior of the worker population, as increased contemporary availability of inexpensive commercial beer, wine, and liquor, primarily in “take-away” (carry-out) sources and shebeens (illegal bars), has maintained or exacerbated heavy, episodic drinking behavior (London et al., 1995, Parry and Bennetts, 1998, London, 2000, Crome and Glass, 2000, Mager, 2004). Episodic (binge) drinking is a major form of recreation among sub-segments of the WCP population, which contributes to many public health problems (King et al., 2004).
The population of the WCP is four million people composed of: 57% cape coloured (mixed race), 18% black, 25% white, and 1% other. The Cape Town metropolitan area is the principal urban area of the WCP, but 40% of the population lives outside of it in small towns and rural areas. The study community is similar in social and economic character to many others in the Winelands of WCP, with a 1996 population of 45,255 (28.1% rural) (RSA, 1997). Most of the inhabitants of this area are coloured (people of mixed ancestry from intermarriage of black African populations, European-origin whites, and some Asians).
This article summarizes a third, active case ascertainment FAS research initiative in a first grade cohort in the WCP. Although FAS had been diagnosed in SA before (Palmer, 1985), a first population-based study in this community was prompted by a bi-national (US and SA) commission initiated by the vice presidents of the two countries (NIAAA, 1996, NIAAA, 1998). A follow-up study was undertaken in 1999, and both waves of research revealed the highest rates of FAS ever reported. While answering a number of questions about the nature and causes of FAS in this community in general, other questions were raised or were reframed by the findings (May et al., 2000, Viljoen et al., 2003, Viljoen et al., 2005). The study reported upon here was designed to further explore and summarize the epidemiology, maternal risk, child characteristics, trends, and etiology of FAS and PFAS in this community and on FASD in other human populations as well.
Section snippets
Diagnostic criteria
Diagnostic components of the revised US Institute of Medicine (IOM) categories (Hoyme et al., 2005) were used to assess FAS and PFAS in the children. For the diagnosis of FAS a child must have: (1) evidence of a characteristic pattern of minor facial anomalies including at least 2 or more of the key facial features of FAS (palpebral fissures ≤10th centile, thin vermilion border, or smooth philtrum), (2) evidence of prenatal and/or postnatal growth retardation (height (hgt.) or weight (wgt.)
Physical growth and development
In Table 1, column 1, data are presented for all of the children who had consent to participate in the study. Of the 818 children examined, 51.5% were male. The mean age of the first grade children was 7.3 years (87.8 months). Children averaged 119 cm in height, weighed 21.8 kg, and had OFC of 50.9 cm. After the dysmorphology exam, 30 children had a preliminary diagnosis of FAS, and 78 were preliminarily deferred pending further indicators for a more definite diagnosis. These 108, along with the
Discussion
In this third wave of research in the Western Cape Province community, the prevalence of FAS and PFAS was found to be extremely high overall, and highest in the impoverished rural areas. Participation in the study continued at a very high rate (81%). Children with FAS and PFAS had significantly higher scores for dysmorphology than controls and performed significantly worse on verbal I.Q., non-verbal I.Q., and the behavioral measures of the PBCL. Ninety-six percent of the mothers of FAS
Conclusions
The third wave of study in this region of South Africa has demonstrated that these methods of epidemiological research are consistent and improving in ability to diagnose at least two levels of FASD. The specific childhood features of FAS in this first grade population have been detailed as research and diagnostic methods applicable to similar studies in other populations. Similar methods can be used for accurate comparison of FASD prevalence and relative risk. The rate of FAS and Partial FAS
Acknowledgments
This project was funded by the National Institute on Alcohol Abuse, and Alcoholism (NIAAA) with supplements to grants #RO1 AA09440 and R01 AA11685, the National Institute on Minority Health and Health Disparities (NIMHD), and the Foundation for Alcohol Related Research (FARR) of South Africa. Faye Calhoun, D.P.A., Kenneth Warren, Ph.D., and T.-K. Li, M.D. of NIAAA helped initiate and have provided intellectual guidance, participated in, and supported the South African studies of FAS in a
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